Christina Jacobsen

Publications

1. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
2. Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia. N Engl J Med. 2024 Jul 11; 391(2):167-176. View Abstract
3. Genetics of skeletal proportions in two different populations. bioRxiv. 2023 May 30. View Abstract
4. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. View Abstract
5. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View Abstract
6. Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. J Bone Miner Res. 2020 10; 35(10):1981-1991. View Abstract
7. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5). View Abstract
8. Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. Bone. 2020 02; 131:115084. View Abstract
9. Retinoic-acid-induced osteogenesis of hiPSCs. Nat Biomed Eng. 2019 07; 3(7):504-506. View Abstract
10. The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis. J Pediatr Orthop. 2017 Jul/Aug; 37(5):e313-e316. View Abstract
11. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. View Abstract
12. Application of anti-Sclerostin therapy in non-osteoporosis disease models. Bone. 2017 03; 96:18-23. View Abstract
13. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Bone. 2016 09; 90:127-32. View Abstract
14. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. 2016 06; 87:120-9. View Abstract
15. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. View Abstract
16. Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Nat Med. 2014 Nov; 20(11):1229-30. View Abstract
17. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. J Bone Miner Res. 2014 Oct; 29(10):2297-306. View Abstract
18. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract
19. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug; 99(8):E1510-8. View Abstract
20. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Sci Transl Med. 2013 Nov 13; 5(211):211ra158. View Abstract
21. An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. J Bone Miner Res. 2013 Oct; 28(10):2081-93. View Abstract
22. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View Abstract
23. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View Abstract
24. Lrp5 functions in bone to regulate bone mass. Nat Med. 2011 Jun; 17(6):684-91. View Abstract
25. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab. 2010 Sep; 95(9):4184-91. View Abstract
26. Craniocerebral trauma--congruence between post-mortem computed tomography diagnoses and autopsy results: a 2-year retrospective study. Forensic Sci Int. 2010 Jan 30; 194(1-3):9-14. View Abstract
27. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm Res. 2009; 71(2):100-10. View Abstract
28. Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Nat Clin Pract Endocrinol Metab. 2008 Sep; 4(9):524-8. View Abstract
29. GATA-4:FOG interactions regulate gastric epithelial development in the mouse. Dev Dyn. 2005 Oct; 234(2):355-62. View Abstract
30. Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas. Mol Cell Endocrinol. 2004 Oct 29; 226(1-2):51-7. View Abstract
31. GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. Am J Physiol Gastrointest Liver Physiol. 2004 Nov; 287(5):G1086-99. View Abstract
32. Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium. Dev Biol. 2002 Jan 01; 241(1):34-46. View Abstract
Show All Publications Show Fewer Publications